CASE REPORT article
Front. Pediatr.
Sec. Genetics of Common and Rare Diseases
Volume 13 - 2025 | doi: 10.3389/fped.2025.1628525
Diagnosis and Genetic Analysis of Gaucher Disease in a Pediatric Case: A Case Report
Provisionally accepted
- 1Department of Laboratory Medicine, The First Affiliated Hospital of Bengbu Medical University, Bengbu, China
- 2Molecular Diagnosis Center, The First Affiliated Hospital of Bengbu Medical University, Bengbu, China
- 3Department of Neurosurgery, The First Affiliated Hospital of Bengbu Medical University, Bengbu, China
- 4Department of Pediatrics, The First Affiliated Hospital of Bengbu Medical University, Bengbu, China
- 5Department of Radiology, The First Affiliated Hospital of Bengbu Medical University, Bengbu, China
Select one of your emails
You have multiple emails registered with Frontiers:
Notify me on publication
Please enter your email address:
If you already have an account, please login
You don't have a Frontiers account ? You can register here
A 2-year-old patient was admitted to our hospital with hepatosplenomegaly as the prominent clinical feature. Peripheral blood analysis during hospitalization revealed trilineage cytopenia. Bone marrow cytology examination demonstrated abundant suspected Gaucher cells. Full-spine MRI exhibited widening of the distal femoral metaphysis with an "Erlenmeyer flask deformity." Subsequent enzymatic and genetic evaluations for Gaucher disease (GD) confirmed reduced βglucocerebrosidase (GBA) activity, significantly elevated glucosylsphingosine (Lyso-Gb1) levels, and a homozygous missense mutation in the GBA gene c. 1448T>C(p.Leu483Pro). Genetic testing of the parents revealed both were heterozygous carriers of the same mutationc. 1448T>C( p.Leu483Pro), confirming the diagnosis of GD in the child with an autosomal recessive inheritance pattern. GD typically presents in childhood with hepatosplenomegaly, anemia, and thrombocytopenia. Given its rarity and nonspecific clinical manifestations, bone marrow cytology and imaging studies may provide diagnostic clues, but definitive diagnosis requires confirmation through β-glucocerebrosidase activity assays and genetic testing.Enzyme replacement therapy (ERT) is currently the primary treatment modality. The child is receiving regular intravenous infusions of imiglucerase at our hospital.
Keywords: Gaucher Disease, β-glucocerebrosidase, Mendelian inheritance, Genetic Testing, rare disease
Received: 14 May 2025; Accepted: 14 Jul 2025.
Copyright: © 2025 Ma, Wu, Feng, Sang, Duan, Li and Zhang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Qiang Zhang, Department of Laboratory Medicine, The First Affiliated Hospital of Bengbu Medical University, Bengbu, China
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.